Department of Molecular Genetics and Microbiology, School of Medicine, State University of New York, Stony Brook, NY, USA.
Genome Biol Evol. 2011;3:959-73. doi: 10.1093/gbe/evr077. Epub 2011 Jul 29.
Intergenic regions of prokaryotic genomes carry multiple copies of terminal inverted repeat (TIR) sequences, the nonautonomous miniature inverted-repeat transposable element (MITE). In addition, there are the repetitive extragenic palindromic (REP) sequences that fold into a small stem loop rich in G-C bonding. And the clustered regularly interspaced short palindromic repeats (CRISPRs) display similar small stem loops but are an integral part of a complex genetic element. Other classes of repeats such as the REP2 element do not have TIRs but show other signatures. With the current availability of a large number of whole-genome sequences, many new repeat elements have been discovered. These sequences display diverse properties. Some show an intimate linkage to integrons, and at least one encodes a small RNA. Many repeats are found fused with chromosomal open reading frames, and some are located within protein coding sequences. Small repeat units appear to work hand in hand with the transcriptional and/or post-transcriptional apparatus of the cell. Functionally, they are multifaceted, and this can range from the control of gene expression, the facilitation of host/pathogen interactions, or stimulation of the mammalian immune system. The CRISPR complex displays dramatic functions such as an acquired immune system that defends against invading viruses and plasmids. Evolutionarily, mobile repeat elements may have influenced a cycle of active versus inactive genes in ancestral organisms, and some repeats are concentrated in regions of the chromosome where there is significant genomic plasticity. Changes in the abundance of genomic repeats during the evolution of an organism may have resulted in a benefit to the cell or posed a disadvantage, and some present day species may reflect a purification process. The diverse structure, eclectic functions, and evolutionary aspects of repeat elements are described.
原核基因组的基因间区携带多个末端反向重复(TIR)序列,即非自主微型反向重复转座元件(MITE)。此外,还有重复外显子回文(REP)序列,它们折叠成富含 G-C 键的小茎环。而成簇的规则间隔的短回文重复序列(CRISPR)则显示出类似的小茎环,但却是一个复杂遗传元件的组成部分。其他类别的重复序列,如 REP2 元件,没有 TIRs,但具有其他特征。随着大量全基因组序列的出现,许多新的重复元件被发现。这些序列显示出不同的性质。有些与整合子紧密相关,至少有一个编码小 RNA。许多重复序列与染色体开放阅读框融合,有些位于蛋白质编码序列内。小重复单元似乎与细胞的转录和/或转录后装置密切相关。从功能上讲,它们是多方面的,可以从控制基因表达、促进宿主/病原体相互作用或刺激哺乳动物免疫系统等方面发挥作用。CRISPR 复合物具有显著的功能,例如作为防御入侵病毒和质粒的获得性免疫系统。从进化的角度来看,移动重复元件可能影响了祖先生物中活跃基因与非活跃基因之间的循环,有些重复元件集中在染色体上具有显著基因组可塑性的区域。在生物体的进化过程中,基因组重复序列丰度的变化可能对细胞有利或不利,而一些当今的物种可能反映了一个净化过程。本文描述了重复元件的多样化结构、折衷功能和进化方面。